January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.
2 citations
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April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
1 citations
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November 2016 in “Frontiers in neurology” In this case report, a patient with Cronkhite-Canada syndrome also had mononeuritis multiplex, and the authors suggest that an autoimmune mechanism may be involved based on steroid responsiveness and electrophysiological findings.
1 citations
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April 2010 in “Digital WPI” This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.
This review discusses central centrifugal cicatricial alopecia and emphasizes the need for more research to understand and manage the disease, while also suggesting initiatives like educating hairstylists for early detection.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
June 2020 in “Journal of Investigative Dermatology” Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.
Men with CCCA often face delayed diagnosis and severe hair loss, highlighting the need for earlier recognition and treatment.
1 citations
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December 2022 in “Plants” This study suggests that CSLD1 is key to nitrogen-dependent root hair elongation and regulation of AMT1;2 expression in rice roots.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
25 citations
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November 2017 in “Molecular Medicine Reports” This study found that PlncRNA‑1 may enhance the proliferation and differentiation of hair follicle stem cells by upregulating the TGF‑β1-mediated Wnt/β-catenin signaling pathway.
43 citations
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September 2014 in “Molecular Plant” This study found that the signaling peptide CLE40 and receptor proteins CLV2 and CRN regulate root meristem differentiation through two distinct, antagonistic pathways activated by CLE40 in a dose-dependent manner.
February 2024 in “International journal of medical science and clinical research studies” This article reviews the clinical features, pathogenesis, and treatment strategies for Central Centrifugal Cicatricial Alopecia, emphasizing the need for enhanced understanding and early diagnosis, but reports no new research findings.
4 citations
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August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed the iCOUNT tool, which provides insights into stem cell behavior by tracking cell division events and molecular consequences in human and mouse neural stem/progenitor cells.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
201 citations
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November 1964 in “Journal of neurophysiology” The cuneate nucleus has two main neuron types: relay neurons and interneurons.
1 citations
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September 2014 in “Hormones” This review discusses the manifestations of non-classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency across different life stages, but reports no new findings.
1 citations
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December 2019 in “Acta Medica Medianae” This article discusses connubial contact dermatitis, emphasizing its frequent misrecognition and the importance of identifying and eliminating the underlying causes for effective treatment.
March 2026 in “Journal of Investigative Dermatology” This study identified CCCA in 10 children of African descent, highlighting the occurrence of this scarring alopecia in patients under 18 and the importance of early diagnosis for better outcomes.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.
32 citations
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September 2013 in “Breast cancer research” This study identified a specific SNP in the CACNB4 gene associated with a higher risk of chemotherapy-induced alopecia in breast cancer patients, which may help develop interventions to improve their quality of life.
30 citations
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June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the pathophysiology, genetics, and management of nonclassic congenital adrenal hyperplasia, noting subfertility and hormonal issues without providing new clinical results.